| Title : Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea - Bauche_2016_Am.J.Hum.Genet_99_753 |
| Author(s) : Bauche S , O'Regan S , Azuma Y , Laffargue F , McMacken G , Sternberg D , Brochier G , Buon C , Bouzidi N , Topf A , Lacene E , Remerand G , Beaufrere AM , Pebrel-Richard C , Thevenon J , El Chehadeh-Djebbar S , Faivre L , Duffourd Y , Ricci F , Mongini T , Fiorillo C , Astrea G , Burloiu CM , Butoianu N , Sandu C , Servais L , Bonne G , Nelson I , Desguerre I , Nougues MC , Boeuf B , Romero N , Laporte J , Boland A , Lechner D , Deleuze JF , Fontaine B , Strochlic L , Lochmuller H , Eymard B , Mayer M , Nicole S |
| Ref : American Journal of Human Genetics , 99 :753 , 2016 |
| Abstract : |
| PubMedSearch : Bauche_2016_Am.J.Hum.Genet_99_753 |
| PubMedID: 27569547 |
| Title : Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome - Bauche_2013_Neuromuscul.Disord_23_998 |
| Author(s) : Bauche S , Boerio D , Davoine CS , Bernard V , Stum M , Bureau C , Fardeau M , Romero NB , Fontaine B , Koenig J , Hantai D , Gueguen A , Fournier E , Eymard B , Nicole S |
| Ref : Neuromuscular Disorders , 23 :998 , 2013 |
| Abstract : |
| PubMedSearch : Bauche_2013_Neuromuscul.Disord_23_998 |
| PubMedID: 24011702 |
| Title : Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia - Stum_2008_Hum.Mol.Genet_17_3166 |
| Author(s) : Stum M , Girard E , Bangratz M , Bernard V , Herbin M , Vignaud A , Ferry A , Davoine CS , Echaniz-Laguna A , Rene F , Marcel C , Molgo J , Fontaine B , Krejci E , Nicole S |
| Ref : Hum Mol Genet , 17 :3166 , 2008 |
| Abstract : |
| PubMedSearch : Stum_2008_Hum.Mol.Genet_17_3166 |
| PubMedID: 18647752 |
| Title : Generation of a mouse model for Schwartz-Jampel syndrome - |
| Author(s) : Stum M , Girard E , Molgo J , Tabti N , Willer J-C , Fontaine B , Krejci E , Nicole S |
| Ref : Journal de Physiologie (Paris) , 99 :275 , 2006 |
| PubMedID: |
| Title : Denervation of mouse skeletal muscle differentially affects the expression of the jun and fos proto-oncogenes - Bessereau_1990_New.Biol_2_375 |
| Author(s) : Bessereau JL , Fontaine B , Changeux JP |
| Ref : New Biol , 2 :375 , 1990 |
| Abstract : |
| PubMedSearch : Bessereau_1990_New.Biol_2_375 |
| PubMedID: 2126956 |
| Title : The acetylcholine receptor: functional architecture and regulation - |
| Author(s) : Changeux JP , Benoit P , Bessis A , Cartaud J , Devillers-Thiery A , Fontaine B , Galzi JL , Klarsfeld A , Laufer R , Mulle C , et al. |
| Ref : Adv Second Messenger Phosphoprotein Res , 24 :15 , 1990 |
| PubMedID: 1698404 |
| Title : Regulation of acetylcholine receptor gene expression by neural factors and electrical activity during motor endplate formation - |
| Author(s) : Changeux JP , Benoit P , Bessis A , Cartaud J , Devillers-Thiery A , Fontaine B , Galzi JL , Klarsfeld A , Laufer R , Mulle C , et al. |
| Ref : Biochemical Society Symposium , 56 :9 , 1990 |
| PubMedID: 2256962 |
| Title : Acetylcholine receptor expression in primary cultures of embryonic chick myotubes--II. Comparison between the effects of spinal cord cells and calcitonin gene-related peptide - Kirilovsky_1989_Neurosci_32_289 |
| Author(s) : Kirilovsky J , Duclert A , Fontaine B , Devillers-Thiery A , Osterlund M , Changeux JP |
| Ref : Neuroscience , 32 :289 , 1989 |
| Abstract : |
| PubMedSearch : Kirilovsky_1989_Neurosci_32_289 |
| PubMedID: 2586756 |
| Title : Regulation of muscle AChR alpha subunit gene expression by electrical activity: involvement of protein kinase C and Ca2+ - Klarsfeld_1989_Neuron_2_1229 |
| Author(s) : Klarsfeld A , Laufer R , Fontaine B , Devillers-Thiery A , Dubreuil C , Changeux JP |
| Ref : Neuron , 2 :1229 , 1989 |
| Abstract : |
| PubMedSearch : Klarsfeld_1989_Neuron_2_1229 |
| PubMedID: 2516449 |
| Title : [Possible trophic role on the neuromuscular junction of a neuropeptide co-existing with acetylcholine in motor neurons of the spinal cord] - Fontaine_1989_Rev.Neurol.(Paris)_145_194 |
| Author(s) : Fontaine B , Klarsfeld A , Laufer R , Hokfelt T , Changeux JP |
| Ref : Rev Neurol (Paris) , 145 :194 , 1989 |
| Abstract : |
| PubMedSearch : Fontaine_1989_Rev.Neurol.(Paris)_145_194 |
| PubMedID: 2546240 |
| Title : Acetylcholine receptor expression in primary cultures of embryonic chick myotubes--I. Discoordinate regulation of alpha-, gamma- and delta-subunit gene expression by calcitonin gene-related peptide and by muscle electrical activity - Osterlund_1989_Neurosci_32_279 |
| Author(s) : Osterlund M , Fontaine B , Devillers-Thiery A , Geoffroy B , Changeux JP |
| Ref : Neuroscience , 32 :279 , 1989 |
| Abstract : |
| PubMedSearch : Osterlund_1989_Neurosci_32_279 |
| PubMedID: 2586755 |
| Title : Calcitonin gene-related peptide, a peptide present in spinal cord motoneurons, increases the number of acetylcholine receptors in primary cultures of chick embryo myotubes - Fontaine_1986_Neurosci.Lett_71_59 |
| Author(s) : Fontaine B , Klarsfeld A , Hokfelt T , Changeux JP |
| Ref : Neuroscience Letters , 71 :59 , 1986 |
| Abstract : |
| PubMedSearch : Fontaine_1986_Neurosci.Lett_71_59 |
| PubMedID: 3491345 |